KYNU Chromosome 2
Kynureninase
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What This Gene Does
Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
Associated Conditions (9)
Hydroxykynureninuria
KYNU-related disorder
Vertebral
cardiac
renal
and limb defects syndrome 2
Clear cell carcinoma of kidney
Congenital NAD deficiency disorder
Catel-Manzke syndrome
Key Variants
RS369879960
Conflicting classifications of pathogenicity
Health Risk
RS376794557
Conflicting classifications of pathogenicity
Hydroxykynureninuria, Hydroxykynureninuria
Health Risk
RS1683090143
Likely pathogenic
KYNU-related disorder, KYNU-related disorder
Health Risk
RS1685164393
Likely pathogenic
KYNU-related disorder, KYNU-related disorder
Health Risk
RS1686687362
Likely pathogenic
Health Risk
RS2467839682
Likely pathogenic
KYNU-related disorder, KYNU-related disorder
Health Risk
RS754953201
Likely pathogenic
Vertebral, cardiac, renal
Health Risk
RS1135401744
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS142934146
Pathogenic
Catel-Manzke syndrome, Vertebral, cardiac
Health Risk
RS1458654786
Pathogenic
Congenital NAD deficiency disorder, Vertebral, cardiac
Health Risk
RS2467829103
Pathogenic
Vertebral, cardiac, renal
Health Risk
RS2468009874
Pathogenic
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369879960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376794557 | Health Risk | Conflicting classifications of pathogenicity | Hydroxykynureninuria, Hydroxykynureninuria |
| RS1683090143 | Health Risk | Likely pathogenic | KYNU-related disorder, KYNU-related disorder |
| RS1685164393 | Health Risk | Likely pathogenic | KYNU-related disorder, KYNU-related disorder |
| RS1686687362 | Health Risk | Likely pathogenic | — |
| RS2467839682 | Health Risk | Likely pathogenic | KYNU-related disorder, KYNU-related disorder |
| RS754953201 | Health Risk | Likely pathogenic | Vertebral, cardiac, renal |
| RS1135401744 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS142934146 | Health Risk | Pathogenic | Catel-Manzke syndrome, Vertebral, cardiac |
| RS1458654786 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS2467829103 | Health Risk | Pathogenic | Vertebral, cardiac, renal |
| RS2468009874 | Health Risk | Pathogenic | — |
| RS606231307 | Health Risk | Pathogenic | Hydroxykynureninuria, Hydroxykynureninuria |
| RS752269711 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Congenital NAD deficiency disorder |
| RS758865880 | Health Risk | Pathogenic | Vertebral, cardiac, renal |
| RS770642379 | Health Risk | Pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS780720490 | Health Risk | Pathogenic | Catel-Manzke syndrome, Catel-Manzke syndrome |
| RS147475752 | Health Risk | Pathogenic/Likely pathogenic | Catel-Manzke syndrome, Congenital NAD deficiency disorder, Catel-Manzke syndrome |
| RS550079487 | Health Risk | Pathogenic/Likely pathogenic | Vertebral, cardiac, renal |
| RS765122670 | Health Risk | Pathogenic/Likely pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS767060858 | Health Risk | Pathogenic/Likely pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |
| RS771131526 | Health Risk | Pathogenic/Likely pathogenic | Congenital NAD deficiency disorder, Vertebral, cardiac |